Neutrophils are the most abundant circulating leukocytes, being the first line of defence
against bacterial and fungal infections. However, neutrophils also contribute to tissue …

Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

Neutrophils, the most abundant human immune cells, are rapidly recruited to sites of
infection, where they fulfill their life-saving antimicrobial functions. While traditionally …

Severe congenital neutropenias are a heterogeneous group of rare haematological
diseases characterized by impaired maturation of neutrophil granulocytes. Patients with …

Polymorphonuclear neutrophils are the first cells recruited to inflammatory sites and form the
earliest line of defense against invading microorganisms. Neutrophil elastase, proteinase 3 …

In the last years, advances in molecular genetics and immunology have resulted in the
identification of a growing number of genes causing primary immunodeficiencies (PIDs) in …

The inherited marrow failure syndromes are a diverse set of genetic disorders characterized
by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly …

Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel
disease in glycogen storage disease type Ib (GSD-Ib). Our discovery that accumulating 1, 5 …

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD): Diagnosis
and Treatment, first published in 1990. Within the last 6 years a Copernican revolution in our …

We describe a novel clinical phenotype associating T-and B-cell lymphopenia, intermittent
neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their …